ClinVar Miner

Submissions for variant NM_001164688.2(RD3):c.500G>A (p.Arg167Lys)

gnomAD frequency: 0.01632  dbSNP: rs74782684
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000878362 SCV001021258 benign Leber congenital amaurosis 12 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000878362 SCV001252388 benign Leber congenital amaurosis 12 2018-06-19 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Breakthrough Genomics, Breakthrough Genomics RCV004715351 SCV005286957 benign not provided criteria provided, single submitter not provided

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